Linked Data
ClinVar Variation Id:
2437659
ClinVar RCV Id:
RCV003143162
dbSNP Id:
rs373540030
gnomAD v2:
2-179430988-A-T
gnomAD v4:
2-178566261-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178566261A>T , CM000664.2:g.178566261A>T | GRCh38 |
| NC_000002.11:g.179430988A>T , CM000664.1:g.179430988A>T | GRCh37 |
| NC_000002.10:g.179139234A>T | NCBI36 |
| NG_011618.3:g.269542T>A , LRG_391:g.269542T>A | |
| NG_051363.1:g.48435A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.72167T>A (TTN) | ENSP00000343764.6:p.Ile24056Asn | |
| ENST00000342175.11:c.53252T>A (TTN) | ENSP00000340554.6:p.Ile17751Asn | |
| ENST00000359218.10:c.53051T>A (TTN) | ENSP00000352154.5:p.Ile17684Asn | |
| ENST00000342175.10:c.53252T>A (TTN) | ENSP00000340554.6:p.Ile17751Asn | |
| ENST00000342992.10:c.72167T>A (TTN) | ENSP00000343764.6:p.Ile24056Asn | |
| ENST00000359218.9:c.53051T>A (TTN) | ENSP00000352154.5:p.Ile17684Asn | |
| ENST00000460472.6:c.52676T>A (TTN) | ENSP00000434586.1:p.Ile17559Asn | |
| ENST00000589042.5:c.79871T>A (TTN) MANE Select | ENSP00000467141.1:p.Ile26624Asn | |
| ENST00000591111.5:c.74948T>A (TTN) | ENSP00000465570.1:p.Ile24983Asn | |
| ENST00000615779.4:c.74948T>A (TTN) | ENSP00000483597.1:p.Ile24983Asn | |
| NM_001256850.1:c.74948T>A (TTN) | NP_001243779.1:p.Ile24983Asn | |
| NM_001267550.2:c.79871T>A (TTN) MANE Select | NP_001254479.2:p.Ile26624Asn | |
| NM_003319.4:c.52676T>A (TTN) | NP_003310.4:p.Ile17559Asn | |
| NM_133378.4:c.72167T>A (TTN) | NP_596869.4:p.Ile24056Asn | |
| NM_133432.3:c.53051T>A (TTN) | NP_597676.3:p.Ile17684Asn | |
| NM_133437.4:c.53252T>A (TTN) | NP_597681.4:p.Ile17751Asn | |
| NR_038271.1:n.447-5039A>T (TTN-AS1) | ||
| NR_038272.1:n.2044-16311A>T (TTN-AS1) | ||
| XM_011511729.1:c.78968T>A (TTN) | XP_011510031.1:p.Ile26323Asn | |
| XM_011511730.1:c.52862T>A (TTN) | XP_011510032.1:p.Ile17621Asn | |
| XM_011511731.1:c.52721T>A (TTN) | XP_011510033.1:p.Ile17574Asn | |
| XM_017004819.1:c.78764T>A (TTN) | XP_016860308.1:p.Ile26255Asn | |
| XM_017004820.1:c.74162T>A (TTN) | XP_016860309.1:p.Ile24721Asn | |
| XM_017004821.1:c.74159T>A (TTN) | XP_016860310.1:p.Ile24720Asn | |
| XM_017004822.1:c.71201T>A (TTN) | XP_016860311.1:p.Ile23734Asn | |
| XM_017004823.1:c.52817T>A (TTN) | XP_016860312.1:p.Ile17606Asn | |
| XM_024453094.1:c.74312T>A (TTN) | XP_024308862.1:p.Ile24771Asn | |
| XM_024453095.1:c.74309T>A (TTN) | XP_024308863.1:p.Ile24770Asn | |
| XM_024453096.1:c.73742T>A (TTN) | XP_024308864.1:p.Ile24581Asn | |
| XM_024453097.1:c.71084T>A (TTN) | XP_024308865.1:p.Ile23695Asn | |
| XM_024453098.1:c.71003T>A (TTN) | XP_024308866.1:p.Ile23668Asn | |
| XM_024453099.1:c.52766T>A (TTN) | XP_024308867.1:p.Ile17589Asn | |
| XM_024453100.1:c.42620T>A (TTN) | XP_024308868.1:p.Ile14207Asn |